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Items: 1 to 50 of 58

1.

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

Sainio MT, Ylikallio E, Mäenpää L, Lahtela J, Mattila P, Auranen M, Palmio J, Tyynismaa H.

Neurol Genet. 2018 Jun 5;4(3):e244. doi: 10.1212/NXG.0000000000000244. eCollection 2018 Jun.

2.

Novel valosin-containing protein mutations associated with multisystem proteinopathy.

Al-Tahan S, Al-Obeidi E, Yoshioka H, Lakatos A, Weiss L, Grafe M, Palmio J, Wicklund M, Harati Y, Omizo M, Udd B, Kimonis V.

Neuromuscul Disord. 2018 Jun;28(6):491-501. doi: 10.1016/j.nmd.2018.04.007. Epub 2018 Apr 17.

PMID:
29754758
3.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B.

J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.

4.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B.

Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30.

PMID:
29437287
5.

Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey.

Suokas K, Palmio J, Sandell S, Udd B, Hietaharju A.

Muscle Nerve. 2018 Jun;57(6):1014-1017. doi: 10.1002/mus.26050. Epub 2018 Jan 11.

PMID:
29272040
6.

Speech deterioration in amyotrophic lateral sclerosis (ALS) after manifestation of bulbar symptoms.

Makkonen T, Ruottinen H, Puhto R, Helminen M, Palmio J.

Int J Lang Commun Disord. 2018 Mar;53(2):385-392. doi: 10.1111/1460-6984.12357. Epub 2017 Nov 21.

PMID:
29159848
7.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V.

PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642. eCollection 2017.

8.

Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy.

Jokela M, Huovinen S, Palmio J, Saukkonen AM, Penttilä S, Udd B.

Neuromuscul Disord. 2017 Oct;27(10):962-963. doi: 10.1016/j.nmd.2017.06.014. Epub 2017 Jun 23. No abstract available.

PMID:
28694073
9.

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

Balcin H, Palmio J, Penttilä S, Nennesmo I, Lindfors M, Solders G, Udd B.

Neuromuscul Disord. 2017 Jul;27(7):627-630. doi: 10.1016/j.nmd.2017.04.006. Epub 2017 Apr 18.

PMID:
28478914
10.

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene.

Palmio J, Sandell S, Hanna MG, Männikkö R, Penttilä S, Udd B.

Neurology. 2017 Apr 18;88(16):1520-1527. doi: 10.1212/WNL.0000000000003846. Epub 2017 Mar 22.

11.

Association study reveals novel risk loci for sporadic inclusion body myositis.

Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Mirabella M, Sandholm N, Lohi H, Hackman P, Udd B.

Eur J Neurol. 2017 Apr;24(4):572-577. doi: 10.1111/ene.13244. Epub 2017 Feb 24.

PMID:
28233382
12.

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.

Palmio J, Kärppä M, Baumann P, Penttilä S, Moilanen J, Udd B.

Clin Case Rep. 2016 Oct 26;4(12):1151-1156. eCollection 2016 Dec.

13.

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.

Penttilä S, Jokela M, Saukkonen AM, Toivanen J, Palmio J, Lähdesmäki J, Sandell S, Shcherbii M, Auranen M, Ylikallio E, Tyynismaa H, Udd B.

J Neurol Neurosurg Psychiatry. 2017 Mar;88(3):272-277. doi: 10.1136/jnnp-2016-314154. Epub 2016 Nov 3. No abstract available.

PMID:
27810918
14.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Evilä A, Palmio J, Vihola A, Savarese M, Tasca G, Penttilä S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B.

Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29.

PMID:
27796757
15.

Myofibrillar and distal myopathies.

Palmio J, Udd B.

Rev Neurol (Paris). 2016 Oct;172(10):587-593. doi: 10.1016/j.neurol.2016.07.019. Epub 2016 Sep 13. Review.

PMID:
27638134
16.

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

Piirilä P, Similä ME, Palmio J, Wuorimaa T, Ylikallio E, Sandell S, Haapalahti P, Uotila L, Tyynismaa H, Udd B, Auranen M.

Front Neurol. 2016 May 30;7:82. doi: 10.3389/fneur.2016.00082. eCollection 2016.

17.

CSF and plasma adipokines after tonic-clonic seizures.

Palmio J, Vuolteenaho K, Lehtimäki K, Nieminen R, Peltola J, Moilanen E.

Seizure. 2016 Jul;39:10-12. doi: 10.1016/j.seizure.2016.04.010. Epub 2016 May 4.

18.

Oral motor functions, speech and communication before a definitive diagnosis of amyotrophic lateral sclerosis.

Makkonen T, Korpijaakko-Huuhka AM, Ruottinen H, Puhto R, Hollo K, Ylinen A, Palmio J.

J Commun Disord. 2016 May-Jun;61:97-105. doi: 10.1016/j.jcomdis.2016.04.002. Epub 2016 Apr 6.

PMID:
27110704
19.

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.

Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S, Haapasalo H, Viitaniemi K, Piirilä P, Tyynismaa H, Udd B.

Neurol Genet. 2015 Jun 4;1(1):e7. doi: 10.1212/NXG.0000000000000007. eCollection 2015 Jun.

20.

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.

Jokela M, Huovinen S, Raheem O, Lindfors M, Palmio J, Penttilä S, Udd B.

PLoS One. 2016 Mar 21;11(3):e0151376. doi: 10.1371/journal.pone.0151376. eCollection 2016.

21.

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.

Sandell S, Huovinen S, Palmio J, Raheem O, Lindfors M, Zhao F, Haapasalo H, Udd B.

Acta Neuropathol Commun. 2016 Feb 5;4:9. doi: 10.1186/s40478-016-0276-9.

22.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, Hackman P, Jonson PH, Penttilä S, Vihola A, Huovinen S, Lindfors M, Davis RL, Waddell L, Kaur S, Yiannikas C, North K, Clarke N, MacArthur DG, Sue CM, Udd B.

Neurology. 2016 Jan 26;86(4):391-8. doi: 10.1212/WNL.0000000000002324. Epub 2015 Dec 30. Erratum in: Neurology. 2016 Mar 15;86(11):1077.

23.

Distal myopathies in Finnish patients.

Palmio J, Jokela M, Sandell S, Suominen T, Penttilä S, Udd B.

Duodecim. 2016;132(18):1635-44. Review.

PMID:
29188941
24.

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Palmio J, Jonson PH, Evilä A, Auranen M, Straub V, Bushby K, Sarkozy A, Kiuru-Enari S, Sandell S, Pihko H, Hackman P, Udd B.

Neuromuscul Disord. 2015 Nov;25(11):835-42. doi: 10.1016/j.nmd.2015.07.014. Epub 2015 Jul 27.

PMID:
26338452
25.

Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis.

Jokela ME, Jääskeläinen SK, Sandell S, Palmio J, Penttilä S, Saukkonen A, Soikkeli R, Udd B.

J Neurol Sci. 2015 Aug 15;355(1-2):143-6. doi: 10.1016/j.jns.2015.06.002. Epub 2015 Jun 3.

PMID:
26059445
26.

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.

Palmio J, Evilä A, Bashir A, Norwood F, Viitaniemi K, Vihola A, Huovinen S, Straub V, Hackman P, Hirano M, Bushby K, Udd B.

J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):448-50. doi: 10.1136/jnnp-2014-309349. Epub 2015 May 7. No abstract available.

PMID:
25952333
27.

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.

Komulainen T, Hautakangas MR, Hinttala R, Pakanen S, Vähäsarja V, Lehenkari P, Olsen P, Vieira P, Saarenpää-Heikkilä O, Palmio J, Tuominen H, Kinnunen P, Majamaa K, Rantala H, Uusimaa J.

JIMD Rep. 2015;23:91-100. doi: 10.1007/8904_2015_438. Epub 2015 May 5.

28.

Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease.

Palmio J, Udd B.

Front Aging Neurosci. 2014 Sep 29;6:267. doi: 10.3389/fnagi.2014.00267. eCollection 2014. Review.

29.

Screening for late-onset Pompe disease in Finland.

Palmio J, Auranen M, Kiuru-Enari S, Löfberg M, Bodamer O, Udd B.

Neuromuscul Disord. 2014 Nov;24(11):982-5. doi: 10.1016/j.nmd.2014.06.438. Epub 2014 Jun 28.

PMID:
25047669
30.

Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.

Screen M, Jonson PH, Raheem O, Palmio J, Laaksonen R, Lehtimäki T, Sirito M, Krahe R, Hackman P, Udd B.

Am J Pathol. 2014 Aug;184(8):2322-32. doi: 10.1016/j.ajpath.2014.04.013. Epub 2014 Jun 5.

31.

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG.

Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21.

32.

Atypical phenotypes in titinopathies explained by second titin mutations.

Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B.

Ann Neurol. 2014 Feb;75(2):230-40. doi: 10.1002/ana.24102. Epub 2014 Feb 24.

PMID:
24395473
33.

[The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients].

Jokela M, Palmio J, Sandell S, Penttilä S, Suominen T, Udd B.

Duodecim. 2013;129(19):2011-20. Finnish.

PMID:
24218732
34.

Immunological perspectives of temporal lobe seizures.

Liimatainen S, Lehtimäki K, Palmio J, Alapirtti T, Peltola J.

J Neuroimmunol. 2013 Oct 15;263(1-2):1-7. doi: 10.1016/j.jneuroim.2013.08.001. Epub 2013 Aug 13. Review. Erratum in: J Neuroimmunol. 2014 Feb 15;267(1-2):113. Kai, Lehtimäki [corrected to Lehtimäki, Kai];Johanna, Palmio [corrected to Palmio, Johanna]; Tiina, Alapirtti [corrected to Alapirtti, Tiina]; Jukka, Peltola [corrected to Peltola, Jukka].

PMID:
23998423
35.

An unusual phenotype of late-onset desminopathy.

Palmio J, Penttilä S, Huovinen S, Haapasalo H, Udd B.

Neuromuscul Disord. 2013 Nov;23(11):922-3. doi: 10.1016/j.nmd.2013.06.374. Epub 2013 Jul 30. No abstract available.

PMID:
23911073
36.

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

Sandell SM, Mahjneh I, Palmio J, Tasca G, Ricci E, Udd BA.

Eur J Neurol. 2013 Dec;20(12):1553-9. doi: 10.1111/ene.12239. Epub 2013 Jul 19.

PMID:
23865856
37.

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19.

PMID:
23606733
38.

ANO5-Related Muscle Diseases.

Penttilä S, Palmio J, Udd B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Nov 29.

39.

TARDBP mutations are not a frequent cause of ALS in Finnish patients.

Mentula HK, Tuovinen L, Penttilä S, Suominen T, Udd B, Palmio J.

Acta Myol. 2012 Oct;31(2):134-8.

40.

Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is increased in cerebrospinal fluid and plasma of patients after epileptic seizure.

Mondello S, Palmio J, Streeter J, Hayes RL, Peltola J, Jeromin A.

BMC Neurol. 2012 Aug 29;12:85. doi: 10.1186/1471-2377-12-85.

41.

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B.

Neurology. 2012 Mar 20;78(12):897-903. doi: 10.1212/WNL.0b013e31824c4682. Epub 2012 Mar 7. Erratum in: Neurology. 2013 Jan 8;80(2):226.

PMID:
22402862
42.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B.

Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103.

43.

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family.

Palmio J, Sandell S, Suominen T, Penttilä S, Raheem O, Hackman P, Huovinen S, Haapasalo H, Udd B.

Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008.

PMID:
21684747
44.

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Hackman P, Sandell S, Sarparanta J, Luque H, Huovinen S, Palmio J, Paetau A, Kalimo H, Mahjneh I, Udd B.

Neuromuscul Disord. 2011 May;21(5):338-44. doi: 10.1016/j.nmd.2011.02.008. Epub 2011 Mar 3.

PMID:
21376592
45.

Electroconvulsive therapy and biomarkers of neuronal injury and plasticity: Serum levels of neuron-specific enolase and S-100b protein.

Palmio J, Huuhka M, Laine S, Huhtala H, Peltola J, Leinonen E, Suhonen J, Keränen T.

Psychiatry Res. 2010 May 15;177(1-2):97-100. doi: 10.1016/j.psychres.2009.01.027. Epub 2010 Apr 8.

PMID:
20378182
46.

Levels of IL-1beta and IL-1ra in cerebrospinal fluid of human patients after single and prolonged seizures.

Lehtimäki KA, Keränen T, Palmio J, Peltola J.

Neuroimmunomodulation. 2010;17(1):19-22. doi: 10.1159/000243081. Epub 2009 Oct 5.

PMID:
19816053
47.

Cerebrospinal fluid tau as a marker of neuronal damage after epileptic seizure.

Palmio J, Suhonen J, Keränen T, Hulkkonen J, Peltola J, Pirttilä T.

Seizure. 2009 Sep;18(7):474-7. doi: 10.1016/j.seizure.2009.04.006. Epub 2009 May 9.

48.

Regulation of cerebrospinal fluid levels of cytokines after seizures: the role of IL-6 and glutamic acid.

Lehtimäki KA, Keränen T, Palmio J, Rainesalo S, Saransaari P, Peltola J.

Eur J Neurol. 2009 Apr;16(4):e75. doi: 10.1111/j.1468-1331.2009.02557.x. No abstract available.

PMID:
19222550
49.

Elevated serum neuron-specific enolase in patients with temporal lobe epilepsy: a video-EEG study.

Palmio J, Keränen T, Alapirtti T, Hulkkonen J, Mäkinen R, Holm P, Suhonen J, Peltola J.

Epilepsy Res. 2008 Oct;81(2-3):155-60. doi: 10.1016/j.eplepsyres.2008.05.006. Epub 2008 Jul 1.

PMID:
18595663
50.

Increase in plasma proinflammatory cytokines after electroconvulsive therapy in patients with depressive disorder.

Lehtimäki K, Keränen T, Huuhka M, Palmio J, Hurme M, Leinonen E, Peltola J.

J ECT. 2008 Mar;24(1):88-91. doi: 10.1097/YCT.0b013e3181571abb.

PMID:
18379341

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